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7 Possible Causes for Mutation in the Complement Component 5 Gene

  • Uremic Pneumonitis

    Gene mutations in complement factor B (CFB) and thrombomodulin (THBD) have also been noted (1–4 and 3–5%) [ 31, 32 ].[karger.com] Membrane cofactor protein (MCP) mutations occur at a frequency of 5–7%. Complement factor I (CFI) and complement component C3 (C3) occur at 4–8 and 2–8% respectively.[karger.com]

  • Angioedema

    […] family kindred spanning 3 generations who had partial deficiency of complement component-4 (120790), Zahedi et al. (1995) demonstrated an ala443-to-val mutation in the C1NH[ncbi.nlm.nih.gov] gene, resulting in a dysfunctional C1 inhibitor.[ncbi.nlm.nih.gov] C1NH gene causing type II HAE. .0012 COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR SERPING1, ALA443VAL rs121907950 In 11 members of a 5-[ncbi.nlm.nih.gov]

  • Poor Response to Eculizumab

    BACKGROUND: Eculizumab is a humanized monoclonal antibody that targets complement protein C5 and inhibits terminal complement-mediated hemolysis associated with paroxysmal nocturnal hemoglobinuria (PNH). The molecular basis for the poor response to eculizumab in a small population of Japanese patients is unclear.[…][ncbi.nlm.nih.gov]

  • Atypical Hemolytic-Uremic Syndrome with Anti-Factor H Antibodies

    Gene mutations in complement factor B (CFB; 1%-4%) and thrombomodulin (3%-5%) have also been noted. The CFH -related (CFHR) proteins have also been associated with aHUS.[flipper.diff.org] Complement factor I (CFI) and complement component C3 (C3) occur at 4%-8% and 2%-8%, respectively.[flipper.diff.org] Membrane cofactor protein (MCP) mutations occur at a frequency of 5%-7%.[flipper.diff.org]

  • Atypical Hemolytic-Uremic Syndrome with C3 Anomaly

    Gene mutations in complement factor B (CFB; 1%-4%) and thrombomodulin (3%-5%) have also been noted. The CFH -related (CFHR) proteins have also been associated with aHUS.[flipper.diff.org] Complement factor I (CFI) and complement component C3 (C3) occur at 4%-8% and 2%-8%, respectively.[flipper.diff.org] Membrane cofactor protein (MCP) mutations occur at a frequency of 5%-7%.[flipper.diff.org]

  • Immunodeficiency due to a C5 to C9 Complement Component Deficiency

    Wetsel RA et al. (1990) Deficiency of the murine fifth complement component (C5). A 2-base pair gene deletion in a 5'-exon. [ ] 2.[moldiag.com] Wang X et al. (1995) Inherited human complement C5 deficiency.[moldiag.com] Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families. [ ] 3.[moldiag.com]

  • Alpha 2 Macroglobulin Deficiency

    […] i Membrane attack complex, Secreted Pathology & Biotech i Involvement in disease i Complement component 5 deficiency (C5D) The disease is caused by mutations affecting the[uniprot.org] gene represented in this entry.[uniprot.org] Disease description A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae[uniprot.org]

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